SMAD7
SMAD family member 7
Summary
The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369794757 | 18:46,447,737 | C/T | — | likely benign |
| rs3809923 | 18:46,447,817 | G/C | synonymous variant | — |
| rs762653395 | 18:46,447,857 | G/A | — | uncertain significance |
| rs753170616 | 18:46,447,909 | C/T | — | uncertain significance |
| rs149492644 | 18:46,447,937 | G/A | — | benign |
| rs780863704 | 18:46,447,961 | C/T | — | uncertain significance |
| rs1328219359 | 18:46,447,990 | C/T | — | uncertain significance |
| rs3809922 | 18:46,448,129 | G/C | synonymous variant | — |
| rs6507874 | 18:46,448,805 | T/A | — | — |
| rs6507875 | 18:46,448,819 | C/A | — | — |
| rs8098041 | 18:46,448,875 | A/T | — | — |
| rs8085824 | 18:46,449,111 | T/C | regulatory region variant | — |
| rs58920878 | 18:46,449,565 | C/T | — | — |
| rs7229639 | 18:46,450,976 | A/G | intron variant | — |
| rs4939567 | 18:46,451,873 | G/A | intron variant | — |
| rs11874392 | 18:46,453,156 | A/G | — | — |
| rs4939827 | 18:46,453,463 | T/C | intron variant | risk factor |
| rs12953717 | 18:46,453,929 | C/T | intron variant | — |
| rs9946510 | 18:46,458,227 | A/C | intron variant | — |
| rs4464148 | 18:46,459,032 | T/C | regulatory region variant | — |
| rs2337107 | 18:46,459,323 | C/T | regulatory region variant | — |
| rs7238442 | 18:46,461,786 | T/A | — | — |
| rs78950893 | 18:46,468,718 | C/T | regulatory region variant | — |
| rs773511006 | 18:46,468,880 | G/A | — | uncertain significance |
| rs2070152781 | 18:46,468,905 | G/T | — | uncertain significance |
| rs3764482 | 18:46,468,946 | A/G | — | benign |
| rs9945126 | 18:46,469,962 | C/T | — | — |
| rs3736242 | 18:46,474,746 | T/C | — | likely benign |
| rs551446649 | 18:46,474,796 | G/T | — | uncertain significance |
| rs145686330 | 18:46,474,797 | G/A | — | benign |
| rs2512212940 | 18:46,476,313 | T/C | — | uncertain significance |
| rs2512213086 | 18:46,476,362 | G/T | — | uncertain significance |
| rs553565610 | 18:46,476,364 | G/T | — | uncertain significance |
| rs2512213097 | 18:46,476,365 | C/A | — | likely benign |
| rs975675091 | 18:46,476,382 | G/A | — | likely benign |
| rs1272742769 | 18:46,476,407 | C/T | — | uncertain significance |
| rs1056808060 | 18:46,476,514 | G/A | — | uncertain significance |
| rs908222302 | 18:46,476,533 | C/T | — | uncertain significance |
| rs939657757 | 18:46,476,540 | G/A | — | likely benign |
| rs1012626818 | 18:46,476,541 | G/A | — | uncertain significance |
| rs2070245629 | 18:46,476,544 | G/A | — | uncertain significance |
| rs1318674011 | 18:46,476,551 | C/T | — | uncertain significance |
| rs536465216 | 18:46,476,561 | T/C | — | benign |
| rs2512213820 | 18:46,476,575 | G/T | — | uncertain significance |
| rs975493512 | 18:46,476,584 | C/A | — | uncertain significance |
| rs763219099 | 18:46,476,609 | C/T | — | likely benign |
| rs1035236065 | 18:46,476,611 | G/A | — | likely benign |
| rs778935609 | 18:46,476,629 | C/T | — | uncertain significance |
| rs1227164785 | 18:46,476,632 | G/C | — | likely benign |
| rs2512214110 | 18:46,476,662 | T/C | — | likely benign |
| rs955172734 | 18:46,476,671 | C/T | — | uncertain significance |
| rs144204026 | 18:46,476,680 | C/T | — | likely benign |
| rs1224993808 | 18:46,476,682 | C/T | — | uncertain significance |
| rs1221917917 | 18:46,476,692 | C/T | — | uncertain significance |
| rs755626298 | 18:46,476,707 | C/T | — | uncertain significance |
| rs1180015903 | 18:46,476,708 | C/G | — | likely benign |
| rs2512214243 | 18:46,476,710 | C/A | — | uncertain significance |
| rs2512214264 | 18:46,476,717 | C/G | — | uncertain significance |
| rs1275138317 | 18:46,476,740 | G/C | — | uncertain significance |
| rs752480111 | 18:46,476,761 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.